A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319183



Internal ID20852275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1812581..1954068hg38UCSC Ensembl
chr1:1744020..1885507hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38141488
hg19141488
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201729
Samples
Known GenesCALML6, GNB1, KIAA1751, TMEM52
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319183
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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